GeneBe

16-68736795-GAAA-GAAAAA

Variant names:

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.041 ( 250 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.752

Publications

1 publications found
Variant links:

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ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.106 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.0409
AC:
6139
AN:
150202
Hom.:
247
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.108
Gnomad AMI
AF:
0.00332
Gnomad AMR
AF:
0.0243
Gnomad ASJ
AF:
0.0189
Gnomad EAS
AF:
0.000197
Gnomad SAS
AF:
0.00361
Gnomad FIN
AF:
0.00887
Gnomad MID
AF:
0.0380
Gnomad NFE
AF:
0.0161
Gnomad OTH
AF:
0.0411
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0409
AC:
6150
AN:
150316
Hom.:
250
Cov.:
0
AF XY:
0.0386
AC XY:
2828
AN XY:
73296
show subpopulations
African (AFR)
AF:
0.108
AC:
4423
AN:
40874
American (AMR)
AF:
0.0242
AC:
367
AN:
15142
Ashkenazi Jewish (ASJ)
AF:
0.0189
AC:
65
AN:
3446
East Asian (EAS)
AF:
0.000198
AC:
1
AN:
5056
South Asian (SAS)
AF:
0.00319
AC:
15
AN:
4700
European-Finnish (FIN)
AF:
0.00887
AC:
91
AN:
10256
Middle Eastern (MID)
AF:
0.0408
AC:
12
AN:
294
European-Non Finnish (NFE)
AF:
0.0161
AC:
1088
AN:
67556
Other (OTH)
AF:
0.0407
AC:
85
AN:
2088
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.491
Heterozygous variant carriers
0
267
534
800
1067
1334
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
64
128
192
256
320
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
0.0124
Hom.:
1595

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.75

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

dbSNP: rs34561447; hg19: chr16-68770698; API